Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 13-year-old Romanian boy presented to the eye clinic with a chief complaint of blurred distance and near vision. The patient reported a history of a boil on his neck that was removed in Russia one year ago. Cover testing demonstrated bilateral end point nystagmus and exotropia. Ocular health evaluation revealed an astrocytic hamartoma and oculo-rotary nystagmus. Referral to a retinal specialist helped confirm the diagnosis of astrocytic hamartoma but did not elucidate on the possible aetiology of the lesion or rule out tuberous sclerosis as the causative agent, as the patient was lost to follow-up. Based on fundus signs along with the nystagmus, neuro-imaging studies are indicated to rule out any intracranial masses that may be present. The most important differential diagnosis that must excluded is retinoblastoma, which can closely resemble astrocytic hamartoma. The suspicion of tuberous sclerosis was also considered as a potential cause of the retinal lesion, based on clinical signs. The prognosis for astrocytic hamartomas is relatively good, although until tuberous sclerosis is ruled out, caution should be exercised and serial ophthalmic evaluations should continue.
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PMID:Astrocytic hamartoma: a case report. 1827 83

Torsional nystagmus was noted in a patient with hypothalamic hamartoma. Magnetic resonance imaging revealed an exophytic hypothalamic mass extending into the pre-pontine cistern and abutting ventral mesencephalon. The quickphase of the torsional nystagmus was directed towards the left side, ipsilateral to the side of compression by the hamartoma. Ipsi-lesionally directed pure torsional nystagmus in this case is attributed to the compressive lesion of ocular motor structures responsible for the neural integration of torsional and vertical eye movements, the interstitial nucleus of Cajal. [Published with video sequences].
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PMID:Torsional nystagmus in hypothalamic hamartoma. 2416 5

Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). It typically presents in young adults, although it has been encountered at all ages. We present the case of bilateral cerebellar location of this pathology in a 50-year-old man presented with a progressive onset and worsening of headaches accompanied by nuchal rigidity, photophobia and nausea awakening each morning. Upon physical examination, the patient was awake with a discrete right vestibular syndrome made of positive Romberg without nystagmus. Magnetic Resonance Imaging (MRI) was performed and revealed salient "tiger stripe" appearance of the bilateral cerebellar cortex relevant to a Lhermitte-Duclos disease.
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PMID:The Lhermitte-Duclos disease: a rare bilateral cerebellar location of a rare pathology. 3148 96